AutismKB 2.0

Evidence Details for NKAIN2


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Basic Information Top
Gene Symbol:NKAIN2 ( FAM77B,MGC41924,NKAIP2,TCBA,TCBA1 )
Gene Full Name: Na+/K+ transporting ATPase interacting 2
Band: 6q22.31
Quick LinksEntrez ID:154215; OMIM: 609758; Uniprot ID:NKAI2_HUMAN; ENSEMBL ID: ENSG00000188580; HGNC ID: 16443
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NKAIN2|154215|nucleotide
ATGGGTTATTGCAGTGGCAGGTGCACGCTTATCTTTATCTGTGGCATGCAACTGGTTTGTGTGCTGGAGAGGCAAATATTTGACTTCCTTGGATATCAGTGGGCA
CCTATCCTGGCAAATTTTGTACATATTATTATCGTCATTCTTGGTTTGTTTGGAACTATTCAATATAGACCTCGTTACATAACAGGATATGCTGTCTGGCTAGTC
CTCTGGGTTACGTGGAATGTGTTTGTTATCTGCTTCTATTTGGAGGCTGGGGACCTCTCAAAGGAAACAGACCTTATCCTGACTTTTAATATATCAATGCACCGA
TCTTGGTGGATGGAGAATGGACCAGGATGTACGGTGACGTCAGTGACACCTGCCCCAGACTGGGCCCCAGAAGACCATCGCTACATCACGGTCTCAGGGTGTTTG
CTGGAGTACCAGTACATAGAAGTGGCTCATAGTTCCCTCCAGATTGTCCTCGCACTGGCAGGTTTCATCTACGCCTGTTATGTTGTGAAATGTATAACTGAAGAA
GAGGACAGCTTTGATTTCATAGGTGGCTTTGACTCTTATGGCTATCAAGGGCCTCAGAAGACATCTCATTTACAACTACAGCCTATGTACATGTCAAAATAA





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>NKAIN2|154215|protein
MGYCSGRCTLIFICGMQLVCVLERQIFDFLGYQWAPILANFVHIIIVILGLFGTIQYRPRYITGYAVWLVLWVTWNVFVICFYLEAGDLSKETDLILTFNISMHR
SWWMENGPGCTVTSVTPAPDWAPEDHRYITVSGCLLEYQYIEVAHSSLQIVLALAGFIYACYVVKCITEEEDSFDFIGGFDSYGYQGPQKTSHLQLQPMYMSK



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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top